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Results for the Protein: Q5JUK3
73920089

KCNT1_HUMAN RecName: Full=Potassium channel subfamily T member 1; AltName: Full=KCa4.1

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 (ENFL5)
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (EIEE14)
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Default View:

Ion_trans_2 - pfam07885
BK_channel_a - pfam03493


Swiss-Prot Protein: Q5JUK3
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BK_channel_apfam034939.1e-54475580
Ion_trans_2pfam078853.6e-15258331

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069318Diseasep.ALA915THREpileptic encephalopathy, early infantile, 14 (EIEE14)
Swiss-ProtVAR_069317Diseasep.ARG909CYSEpilepsy, nocturnal frontal lobe, 5 (ENFL5)
Swiss-ProtVAR_069311Diseasep.ARG379GLNEpilepsy, nocturnal frontal lobe, 5 (ENFL5)
Swiss-ProtVAR_069312Diseasep.ARG409GLNEpileptic encephalopathy, early infantile, 14 (EIEE14)
Swiss-ProtVAR_069313Diseasep.ARG455HISEpileptic encephalopathy, early infantile, 14 (EIEE14)
Swiss-ProtVAR_069314Diseasep.ILE741METEpileptic encephalopathy, early infantile, 14 (EIEE14)
Swiss-ProtVAR_069316Diseasep.MET877ILEEpilepsy, nocturnal frontal lobe, 5 (ENFL5)
Swiss-ProtVAR_069315Diseasep.TYR777HISEpilepsy, nocturnal frontal lobe, 5 (ENFL5)



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